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CHRM3基因与孤独症谱系障碍
引用本文:巨兴达,宋伟,徐婧. CHRM3基因与孤独症谱系障碍[J]. 心理科学进展, 2018, 26(12): 2141-2152. DOI: 10.3724/SP.J.1042.2018.02141
作者姓名:巨兴达  宋伟  徐婧
作者单位:1. 东北师范大学心理学院, 长春 130024;2. 长春中医药大学临床医学院, 长春130117
基金项目:*全国教育科学“十二五”规划教育部青年专项课题“儿童孤独症的基因靶向教育策略研究”资助(EBA140364)
摘    要:孤独症谱系障碍是一类具有遗传基础的儿童发展障碍疾病。近些年, 研究者们从分子病理学层面发现中枢胆碱能神经系统异常与孤独症患者认知和行为异常存在相关性。尸检研究、临床案例、动物模型研究均发现毒蕈碱型(M型)乙酰胆碱受体异常和孤独症的发生有着密切的关系。在以小鼠为模型的行为学研究中, 编码毒蕈碱型乙酰胆碱受体Ⅲ亚型的CHRM3基因突变会导致小鼠出现认知障碍、刻板行为等孤独症样表现。深入了解CHRM3基因的功能将能够帮助研究者进一步解释孤独症的相关行为特征, 为孤独症儿童教育方案的制定提供新的思路和方法。

关 键 词:孤独症谱系障碍  CHRM3基因  临床特征  动物模型  
收稿时间:2018-05-19

CHRM3 gene and autism spectrum disorder
JU Xingda,SONG Wei,XU Jing. CHRM3 gene and autism spectrum disorder[J]. Advances In Psychological Science, 2018, 26(12): 2141-2152. DOI: 10.3724/SP.J.1042.2018.02141
Authors:JU Xingda  SONG Wei  XU Jing
Affiliation:1. School of Psychology, Northeast Normal University, Changchun 130024, China;2. School of Clinical Medicine, Changchun University of Chinese Medicine, Changchun 130117, China
Abstract:Autism Spectrum Disorder is one of the most complex developmental disorders with a strong genetic impact. In recent years, researchers have increasingly linked effects of central cholinergic system dysfunction to autism-related cognitive and behavioral abnormalities at the molecular pathological level. Results from autopsy studies, clinical cases and animal experiments revealed that aberrant muscarinic acetylcholine receptors have a strong relationship with autism. In behavioral studies using mouse models, the variations of CHRM3 gene, which encodes the muscarinic acetylcholine receptor subtype III receptor, can cause autistic phenotypes such as cognitive impairment and stereotypic behavior. Accordingly, in-depth functional understanding of CHRM3 gene may have important implications to further explain the characteristics and mechanisms of autistic behavior and may potentially provide new ideas and methods for the development of educational programs for autistic children.
Keywords:autism spectrum disorder  CHRM3 gene  clinical features  animal models  
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